News

A combination of two chemical modulators of gene activity can stably reactivate the FMR1 gene, the gene that is “switched off” in those with fragile X syndrome, according to a study in human cells and mouse models of the disease. These results add to prior evidence that supports FMR1 reactivation…

Madeline Collin, a 24-year-old activist with Gaucher disease, worries that patients like her will suffer deeply if Britain leaves the European Union (EU), as scheduled, at the end of this month. Collin is an expert on the subject. For her University of Bathdissertation, she analyzed Brexit’s long-term impact…

Women with fragile X syndrome surpass men in their decisional capacity for informed consent about participation in clinical trials, a study says. The findings of the study, “Decisional Capacity for Informed Consent in Males and Females with Fragile X Syndrome,” were published in the Journal of Autism and…

With each new advance in medicine comes ethical dilemmas, from fertility treatments and newborn screening, to vaccinations, gene therapies and euthanasia. But rare diseases and the expensive therapies needed to treat them — particularly in an age of scarce economic resources — almost always entail “tragic choices,” warned Avraham Steinberg,…

Given the genetic variability behind the disease, current clinical diagnostic criteria for fragile X-linked tremor/ataxia syndrome do not accurately detect late-onset ataxia (abnormal, uncoordinated movements), a study suggests. The research, “Low Diagnostic Accuracy of Fragile X Tremor/Ataxia Syndrome Diagnostic Criteria in Late Onset Ataxia” was published as a…

Rare diseases affect about 30 million Americans — roughly the same number as those with type 2 diabetes. Yet only 5 percent of the estimated 7,000 rare diseases known to science have cures or treatments approved by the U.S. Food and Drug Administration (FDA). Raising awareness of those illnesses and highlighting…

Zynerba Pharmaceuticals’ cannabidiol gel ZYN002 has received a U.S. patent for the treatment of Fragile X syndrome. Issued by the U.S. Patent and Trademark Office under the title “Treatment of Fragile X Syndrome with Cannabidiol,” the patent includes claims to treat fragile X syndrome by administering a therapeutic…

New understanding of the genetic mechanisms involved in female inheritance and X chromosome silencing may help shed light on disorders arising from defects in the X chromosome, including fragile X syndrome and Rett syndrome, a study reports. Findings of the study, “Developmental Xist induction is mediated by…

The world’s biggest gathering of rare disease researchers, patient groups, pharmaceutical executives, and government officials is planned for April 10–12 in a Washington, D.C., suburb. Some 1,200 people have already registered to attend the World Orphan Drug Congress (WODC) USA 2019, set to take place at the Gaylord National Harbor…

About 100 scientists, researchers, pharmaceutical executives, and others will converge on Austria’s capital city early next month for the 2nd International Congress on Advanced Treatments in Rare Diseases. The March 4-5 meeting, to take place at the Hilton Am Stadtpark Vienna, features 27 speakers on a variety of disorders…